The research collaboration supports the Genomic Answers for Kids program, aiming to identify genetic causes of unresolved conditions across 30,000 families.
Gene by Gene has entered a research collaboration with Children’s Mercy to provide whole-genome sequencing services in support of precision medicine initiatives at the Children’s Mercy Research Institute, the organizations announced.
The partnership directly supports Genomic Answers for Kids (GA4K), a pediatric genomics initiative designed to accelerate the discovery of underlying genetic causes for rare and difficult-to-diagnose conditions. The GA4K program aims to collect genomic data and clinical health records from 30,000 children and their family members, assembling a repository of nearly 100,000 genomes.
Through the collaboration, Gene by Gene will utilize its high-throughput sequencing capacity and genomics infrastructure to provide scalable genomic data generation, assisting clinical researchers in uncovering novel diagnostic markers and biological mechanisms in pediatric diseases.
“Providing Whole Genome Sequencing capabilities to an institution like Children’s Mercy represents exactly where we believe genomics can make an extraordinary impact,” says Dr Lior Rauchberger, CEO of Gene by Gene, in a release. “Behind every genome is a child and a family looking for answers. Our role is to provide the sequencing infrastructure and expertise that enables researchers to search deeper, work at greater scale, and ultimately move closer to those answers.”
Addressing Diagnostic Odysseys in Rare Disease
For pediatric patients affected by rare genetic disorders, obtaining an accurate diagnosis can take multiple years and frequently requires consultations with numerous specialists, repeated diagnostic procedures, and inconclusive test results.
Whole-genome sequencing enables researchers to evaluate broader structural and noncoding regions of the genome that targeted sequencing panels or standard exome approaches may fail to capture. This wider analytical scope aids clinical investigators in detecting variants that would otherwise be missed by targeted testing methods.
Scalable Infrastructure and Long-Term Data Utility
The research initiative focuses on generating high-capacity genomic workflows and creating durable data assets for pediatric medicine. Gene by Gene’s sequencing infrastructure is structured to maintain consistent sequencing quality, high capacity, and scalability for large population-scale genomic cohorts.
In addition to immediate diagnostic discovery, the resulting dataset offers longitudinal utility for laboratory and clinical teams. Because whole-genome datasets capture the full sequence, research teams can re-analyze existing patient genomes as functional genomic databases expand, variant classifications update, and novel disease-gene associations are discovered, creating opportunities to solve previously unresolved cases over time.
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